Canonical Allele Identifier: CA2695211107

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503172del , CM000671.2:g.124503172del	GRCh38
NC_000009.11:g.127265451del , CM000671.1:g.127265451del	GRCh37
NC_000009.10:g.126305272del	NCBI36
NG_008176.1:g.9249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.151del MANE Select	ENSP00000362690.4:p.Glu51ArgfsTer24
ENST00000373588.8:c.151del	ENSP00000362690.4:p.Glu51ArgfsTer24
ENST00000455734.1:c.151del	ENSP00000393245.1:p.Glu51ArgfsTer24
ENST00000620110.4:c.151del	ENSP00000483309.1:p.Glu51ArgfsTer24
NM_004959.4:c.151del	NP_004950.2:p.Glu51ArgfsTer24
XM_005251871.2:c.151del	XP_005251928.1:p.Glu51ArgfsTer24
XM_005251872.3:c.-18+122del	XP_005251929.1:n.-18+122del
XM_011518455.1:c.151del	XP_011516757.1:p.Glu51ArgfsTer24
XM_011518456.1:c.151del	XP_011516758.1:p.Glu51ArgfsTer24
NM_004959.5:c.151del MANE Select	NP_004950.2:p.Glu51ArgfsTer24